ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.1333G>C (p.Glu445Gln)

gnomAD frequency: 0.00003  dbSNP: rs1405389869
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001247897 SCV001421349 uncertain significance Peroxisome biogenesis disorder 2B 2022-08-10 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 445 of the PEX5 protein (p.Glu445Gln). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PEX5-related conditions. ClinVar contains an entry for this variant (Variation ID: 971979). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV004034908 SCV005002611 uncertain significance Inborn genetic diseases 2024-01-04 criteria provided, single submitter clinical testing The c.1333G>C (p.E445Q) alteration is located in exon 13 (coding exon 12) of the PEX5 gene. This alteration results from a G to C substitution at nucleotide position 1333, causing the glutamic acid (E) at amino acid position 445 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.